MCID: BRL011
MIFTS: 44

Bare Lymphocyte Syndrome, Type I

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I 57 13 73
Hla Class I Deficiency 57 12 25 75 55
Bare Lymphocyte Syndrome Type I 12 25
Mhc Class I Deficiency 12 15
Bls, Type I 57 12
Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency 57
Major Histocompatibility Complex Class 1 Deficiency 53
Bare Lymphocyte Syndrome 1 75
Mhc Class 1 Deficiency 53
Bls Type I 75
Bls I 75
Blsi 12
Bls1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy


HPO:

32
bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604571
Disease Ontology 12 DOID:0060009
MedGen 42 C1858266
MeSH 44 D007153
ICD10 33 D81.6
UMLS 73 C1858266

Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : 25 Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to bare lymphocyte syndrome, type ii and orbital melanoma. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include lung and skin, and related phenotypes are chronic otitis media and ectopia lentis

UniProtKB/Swiss-Prot : 75 Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

Description from OMIM: 604571

Related Diseases for Bare Lymphocyte Syndrome, Type I

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:



Diseases related to Bare Lymphocyte Syndrome, Type I

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
bronchiolitis
more
Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers


Clinical features from OMIM:

604571

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 32 HP:0000389
2 ectopia lentis 32 HP:0001083
3 emphysema 32 HP:0002097
4 bronchiectasis 32 HP:0002110
5 recurrent bronchitis 32 HP:0002837
6 chronic sinusitis 32 HP:0011109
7 bronchiolitis 32 HP:0011950
8 nasal polyposis 32 HP:0100582
9 skin ulcer 32 HP:0200042

MGI Mouse Phenotypes related to Bare Lymphocyte Syndrome, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 CD40 CD80 IL15 IL4 KLRC1 MUC5B
2 immune system MP:0005387 9.47 PDLIM7 SLAMF6 TAP1 TAP2 TAPBP ZAP70

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

41
Lung, Skin

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

# Title Authors Year
1
HLA class I deficiency syndrome mimicking Wegener's granulomatosis. ( 18668571 )
2008
2
Clinical and immunological aspects of HLA class I deficiency. ( 16087697 )
2005
3
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )
2001
4
HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. ( 10074495 )
1999
5
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )
1999
6
Markedly decreased expression of TAP1 and LMP2 genes in HLA class I-deficient human tumor cell lines. ( 8803612 )
1996
7
Homozygous human TAP peptide transporter mutation in HLA class I deficiency. ( 7517574 )
1994
8
A member of the tetra spans transmembrane protein superfamily is recognized by a monoclonal antibody raised against an HLA class I-deficient, lymphokine-activated killer-susceptible, B lymphocyte line. Cloning and preliminary functional studies. ( 1573270 )
1992

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

6
(show top 50) (show all 162)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic
2 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
3 TAP2 TAP2, 1-BP DEL deletion Pathogenic
4 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic
5 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh37 Chromosome 6, 32805967: 32805967
6 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh38 Chromosome 6, 32838190: 32838190
7 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh37 Chromosome 6, 32798457: 32798458
8 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh38 Chromosome 6, 32830680: 32830681
9 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh37 Chromosome 6, 32800235: 32800235
10 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh38 Chromosome 6, 32832458: 32832458
11 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh37 Chromosome 6, 32802958: 32802958
12 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh38 Chromosome 6, 32835181: 32835181
13 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh37 Chromosome 6, 32803501: 32803501
14 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh38 Chromosome 6, 32835724: 32835724
15 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh37 Chromosome 6, 32805789: 32805789
16 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh38 Chromosome 6, 32838012: 32838012
17 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh38 Chromosome 6, 32847125: 32847125
18 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh37 Chromosome 6, 32814902: 32814902
19 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh38 Chromosome 6, 32852214: 32852214
20 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh37 Chromosome 6, 32819991: 32819991
21 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh38 Chromosome 6, 32853588: 32853588
22 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh37 Chromosome 6, 32821365: 32821365
23 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh38 Chromosome 6, 33304535: 33304535
24 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh37 Chromosome 6, 33272312: 33272312
25 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh38 Chromosome 6, 33305295: 33305295
26 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh37 Chromosome 6, 33273072: 33273072
27 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh37 Chromosome 6, 32797283: 32797283
28 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh38 Chromosome 6, 32829506: 32829506
29 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh37 Chromosome 6, 32800221: 32800221
30 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh38 Chromosome 6, 32832444: 32832444
31 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh37 Chromosome 6, 32800243: 32800244
32 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh38 Chromosome 6, 32832466: 32832467
33 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh37 Chromosome 6, 32800427: 32800427
34 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh38 Chromosome 6, 32832650: 32832650
35 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh38 Chromosome 6, 32838230: 32838230
36 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh37 Chromosome 6, 32806007: 32806007
37 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh38 Chromosome 6, 32847165: 32847165
38 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh37 Chromosome 6, 32814942: 32814942
39 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh38 Chromosome 6, 32848666: 32848666
40 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh37 Chromosome 6, 32816443: 32816443
41 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh38 Chromosome 6, 32848995: 32848995
42 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh37 Chromosome 6, 32816772: 32816772
43 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh38 Chromosome 6, 32849112: 32849112
44 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh37 Chromosome 6, 32816889: 32816889
45 TAP1 NM_000593.5(TAP1): c.1300A> T (p.Met434Leu) single nucleotide variant Uncertain significance rs779844691 GRCh38 Chromosome 6, 32850448: 32850448
46 TAP1 NM_000593.5(TAP1): c.1300A> T (p.Met434Leu) single nucleotide variant Uncertain significance rs779844691 GRCh37 Chromosome 6, 32818225: 32818225
47 TAP1 NM_000593.5(TAP1): c.1289C> T (p.Ala430Val) single nucleotide variant Benign rs2127679 GRCh37 Chromosome 6, 32818236: 32818236
48 TAP1 NM_000593.5(TAP1): c.1289C> T (p.Ala430Val) single nucleotide variant Benign rs2127679 GRCh38 Chromosome 6, 32850459: 32850459
49 TAP1 NM_000593.5(TAP1): c.942C> T (p.Gly314=) single nucleotide variant Benign rs41549617 GRCh38 Chromosome 6, 32852191: 32852191
50 TAP1 NM_000593.5(TAP1): c.942C> T (p.Gly314=) single nucleotide variant Benign rs41549617 GRCh37 Chromosome 6, 32819968: 32819968

Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CD40 CD80 IL15 IL4 KLRC1 KLRD1
2
Show member pathways
13.18 CD40 CD80 KLRC1 KLRD1 LILRB1 MICA
3 12.39 IL4 LILRB1 TAP1 TAP2 ZAP70
4
Show member pathways
12.33 IL4 KLRC1 KLRD1 MICA ZAP70
5
Show member pathways
12.24 CD40 CD80 CXCL11 IL15 IL4 KLRC1
6 11.87 CD80 IL15 IL4 KLRC1 MME
7 11.76 CD40 KLRC1 KLRD1 LILRB1 MICA SLAMF6
8 11.59 IL15 IL4 KLRD1
9 11.4 CD40 CD80 MME
10 11.19 CD40 CD80 IL4 ZAP70
11 11.07 CD40 RFX5 RFXANK RFXAP TAP1 TAP2
12 11.01 TAP1 TAP2 TAPBP

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.56 CD40 CD80 KLRD1 LILRB1
2 phagocytic vesicle membrane GO:0030670 9.33 TAP1 TAP2 TAPBP
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.13 TAP1 TAP2 TAPBP
4 TAP complex GO:0042825 8.8 TAP1 TAP2 TAPBP

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.97 CD40 SLAMF6 TAP1 TAP2 ZAP70
2 adaptive immune response GO:0002250 9.86 LILRB1 TAP1 TAP2 ZAP70
3 immune response GO:0006955 9.8 CD40 CD80 CXCL11 IL15 IL4 TAPBP
4 cellular response to lipopolysaccharide GO:0071222 9.76 CD40 CD80 LILRB1
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.7 TAP1 TAP2 TAPBP
6 positive regulation of T cell proliferation GO:0042102 9.67 CD80 IL15 IL4
7 B cell activation GO:0042113 9.63 CD40 IL4 ZAP70
8 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.61 TAP1 TAP2 TAPBP
9 positive regulation of T cell differentiation GO:0045582 9.58 IL4 ZAP70
10 positive regulation of interleukin-17 production GO:0032740 9.55 IL15 SLAMF6
11 dendritic cell differentiation GO:0097028 9.54 IL4 LILRB1
12 positive regulation of isotype switching to IgG isotypes GO:0048304 9.51 CD40 IL4
13 peptide transport GO:0015833 9.5 TAP1 TAP2 TAPBP
14 negative regulation of natural killer cell mediated cytotoxicity GO:0045953 9.48 LILRB1 MICA
15 cytosol to ER transport GO:0046967 9.4 TAP1 TAP2
16 amide transport GO:0042886 9.37 TAP1 TAPBP
17 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.33 TAP1 TAP2 TAPBP
18 regulation of immune response GO:0050776 9.17 CD40 IL4 KLRC1 KLRD1 LILRB1 MICA
19 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.13 TAP1 TAP2 TAPBP

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 MHC protein binding GO:0042287 9.49 TAP1 TAP2
2 protein antigen binding GO:1990405 9.48 KLRC1 KLRD1
3 peptide-transporting ATPase activity GO:0015440 9.46 TAP1 TAP2
4 peptide transmembrane transporter activity GO:1904680 9.43 TAP1 TAP2
5 MHC class Ib protein binding GO:0023029 9.4 TAP1 TAP2
6 TAP2 binding GO:0046979 9.37 TAP1 TAPBP
7 MHC class I protein binding GO:0042288 9.33 LILRB1 TAP1 TAPBP
8 MHC class I protein complex binding GO:0023024 9.32 KLRC1 KLRD1
9 TAP1 binding GO:0046978 9.13 TAP1 TAP2 TAPBP
10 peptide antigen-transporting ATPase activity GO:0015433 8.8 TAP1 TAP2 TAPBP
11 protein binding GO:0005515 10.23 CD40 CD80 CXCL11 IL15 IL4 KLRC1

Sources for Bare Lymphocyte Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....